rs11637630

This is a intron variant variant in the CHRNA3 gene.

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GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

cigarettes per day measurement

Liu M et al. “Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use.” Nature Genetics 51(2):237-244 (2019)

Allele A

OR 0.07

p 4.0e-167

N 403,928

Large GWAS

European

forced expiratory volume, response to bronchodilator

Lutz SM et al. “A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.” Bmc Genetics 16:138 (2015)

Allele A

OR —

β 0.064

p 4.0e-10

N 13,532

Large GWAS

multi-ancestry

FEV/FVC ratio, response to bronchodilator

Lutz SM et al. “A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.” Bmc Genetics 16:138 (2015)

Allele A

OR —

β 0.012

p 2.0e-8

N 13,532

Large GWAS

multi-ancestry

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Research that mentions this SNP (2)

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Identification of pharmacogenetic markers in smoking cessation therapy

AssociationN=436Heitjan DF et al.(2008)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This Bayesian pharmacogenetic analysis of a bupropion vs placebo smoking cessation trial (n=436 European ancestry participants) identified four SNPs with pharmacogenetic relevance from 59 candidate SNPs in nicotinic acetylcholine receptor genes. The strongest signal was rs871058 in CHRNA5, which showed treatment-by-SNP interaction effects on 7-day smoking cessation rates. Bayesian hypothesis testing proved more conservative than unadjusted frequentist tests but less so than multiplicity-corrected tests, with no control SNPs showing significant associations.

Traits studied:Response to bupropion therapySmoking cessationTobacco dependence

PubMed DOI Metascience Observatory

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No evidence for association between 19 cholinergic genes and bipolar disorder

AssociationN=557Jiajun Shi et al.(2007)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This association study screened 93 SNPs in 19 cholinergic genes (CHAT, CHRM1-5, CHRNA1-7, CHRNA9-10, CHRNB1-4) in two bipolar disorder (BD) pedigree series: NIMH Genetics Initiative (474 samples, 152 families) and Clinical Neurogenetics (83 samples, 22 families). Sib-TDT analysis showed nominally significant association for four SNPs (CHRNA2 rs7017417 P=0.024, CHRNA5 rs514743 P=0.031, CHRNB1 rs2302762 P=0.049, CHRNB4 rs1948 P=0.031), but none reached gene-wide significance after multiple testing correction. The authors conclude that these 19 cholinergic genes are unlikely to play a major role in BD predisposition in these pedigrees.

Traits studied:Alcohol dependenceBipolar disorderSchizoaffective disorder bipolar type

PubMed DOI Metascience Observatory

About CHRNA3

This locus encodes a member of the nicotinic acetylcholine receptor family of proteins. Members of this family of proteins form pentameric complexes comprised of both alpha and beta subunits. This locus encodes an alpha-type subunit, as it contains characteristic adjacent cysteine residues. The encoded protein is a ligand-gated ion channel that likely plays a role in neurotransmission. Polymorphisms in this gene have been associated with an increased risk of smoking initiation and an increased susceptibility to lung cancer. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]

rs11637630

GWAS Catalog Trait Associations (3)

cigarettes per day measurement

forced expiratory volume, response to bronchodilator

FEV/FVC ratio, response to bronchodilator

Research that mentions this SNP (2)

About CHRNA3

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